E-MTAB-11671
Ontology highlight
ABSTRACT:
DISEASE(S): Group A Streptococcal Infection,Pneumococcal Infection,Malaria,Juvenile Idiopathic Arthritis,Rhinovirus Infection,Respiratory Syncytial Virus Infection,Adenovirus Infection,Escherichia Coli Infection,Tuberculosis,Influenza,Staphylococcus Aureus Infection,Kawasaki Disease,Meningococcal Infection
PROVIDER: E-MTAB-11671 | ExpressionAtlas | 2023-06-15
REPOSITORIES: ExpressionAtlas
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| E-MTAB-11671-analysis-methods.tsv | Tabular | |||
| E-MTAB-11671-atlasExperimentSummary.Rdata | Rdata | |||
| E-MTAB-11671-coexpressions.tsv.gz | Tabular | |||
| E-MTAB-11671-configuration.xml | Xml | |||
| E-MTAB-11671-factors.xml | Xml |
Items per page: 5 1 - 5 of 56 |
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Project description:Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. 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Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. 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